Reduced vision as a presenting feature of rhombencephalosynapsis.
Rhombencephalosynapsis is a rare congenital abnormality of the cerebellum; there is limited literature of neuro-ophthalmologic features associated with this disease. We report a case identified following the diagnosis of optic nerve hypoplasia.
Subash
Malavika
M
Ophthalmology Department, Whipps Cross University Hospital, London, United Kingdom. malavika_subash@hotmail.com
Minasian
Margaret
M
D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009900:Optic Nerve / Q000473:pathology; D010775:Photic Stimulation / Q000379:methods; D015354:Vision, Low / Q000209:etiology* / Q000503:physiopathology; D014792:Visual Acuity